Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.46010389C>T , CM000679.2:g.46010389C>T	GRCh38
NC_000017.10:g.44087755C>T , CM000679.1:g.44087755C>T	GRCh37
NC_000017.9:g.41443592C>T	NCBI36
NG_007398.1:g.120969C>T
NG_007398.2:g.120927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420682.7:c.815C>T	ENSP00000413056.2:p.Pro272Leu
ENST00000703922.1:c.815C>T	ENSP00000515557.1:p.Pro272Leu
ENST00000703923.1:c.728C>T	ENSP00000515558.1:p.Pro243Leu
ENST00000703924.1:c.815C>T	ENSP00000515559.1:p.Pro272Leu
ENST00000703978.1:c.902C>T	ENSP00000515600.1:p.Pro301Leu
ENST00000703979.1:n.687-3854C>T
ENST00000703980.1:n.128C>T
ENST00000703981.1:n.71C>T
ENST00000262410.10:c.2078C>T MANE Select	ENSP00000262410.6:p.Pro693Leu
ENST00000344290.10:c.1801-3854C>T	ENSP00000340820.6:n.1801-3854C>T
ENST00000351559.10:c.902C>T	ENSP00000303214.7:p.Pro301Leu
ENST00000535772.6:c.736-3854C>T	ENSP00000443028.2:n.736-3854C>T
ENST00000680542.1:c.815C>T	ENSP00000505258.1:p.Pro272Leu
ENST00000680674.1:c.728C>T	ENSP00000505478.1:p.Pro243Leu
ENST00000262410.9:c.1853C>T	ENSP00000262410.5:p.Pro618Leu
ENST00000334239.12:c.649-3854C>T	ENSP00000334886.8:n.649-3854C>T
ENST00000340799.9:c.815C>T	ENSP00000340438.5:p.Pro272Leu
ENST00000344290.9:c.1907C>T	ENSP00000340820.5:p.Pro636Leu
ENST00000351559.9:c.902C>T	ENSP00000303214.7:p.Pro301Leu
ENST00000415613.6:c.1907C>T	ENSP00000410838.2:p.Pro636Leu
ENST00000420682.6:c.815C>T	ENSP00000413056.2:p.Pro272Leu
ENST00000431008.7:c.823-3854C>T	ENSP00000389250.3:n.823-3854C>T
ENST00000446361.7:c.728C>T	ENSP00000408975.3:p.Pro243Leu
ENST00000535772.5:c.823-3854C>T	ENSP00000443028.1:n.823-3854C>T
ENST00000570299.5:n.777-8229C>T
ENST00000571987.5:c.1853C>T	ENSP00000458742.1:p.Pro618Leu
ENST00000574436.5:c.902C>T	ENSP00000460965.1:p.Pro301Leu
ENST00000576518.1:n.6108-3854C>T
NM_001123066.3:c.1907C>T	NP_001116538.2:p.Pro636Leu
NM_001123067.3:c.815C>T	NP_001116539.1:p.Pro272Leu
NM_001203251.1:c.736-3854C>T	NP_001190180.1:n.736-3854C>T
NM_001203252.1:c.823-3854C>T	NP_001190181.1:n.823-3854C>T
NM_005910.5:c.902C>T	NP_005901.2:p.Pro301Leu
NM_016834.4:c.728C>T	NP_058518.1:p.Pro243Leu
NM_016835.4:c.1853C>T	NP_058519.3:p.Pro618Leu
NM_016841.4:c.649-3854C>T	NP_058525.1:n.649-3854C>T
XM_005257362.3:c.2165C>T	XP_005257419.1:p.Pro722Leu
XM_005257364.3:c.2078C>T	XP_005257421.1:p.Pro693Leu
XM_005257365.3:c.2086-3854C>T	XP_005257422.1:n.2086-3854C>T
XM_005257366.2:c.1991C>T	XP_005257423.1:p.Pro664Leu
XM_005257367.3:c.1967C>T	XP_005257424.1:p.Pro656Leu
XM_005257368.3:c.1888-3854C>T	XP_005257425.1:n.1888-3854C>T
XM_005257369.3:c.1100C>T	XP_005257426.1:p.Pro367Leu
XM_005257370.3:c.1013C>T	XP_005257427.1:p.Pro338Leu
XM_005257371.3:c.926C>T	XP_005257428.1:p.Pro309Leu
XM_005257362.4:c.2165C>T	XP_005257419.1:p.Pro722Leu
XM_005257364.4:c.2078C>T	XP_005257421.1:p.Pro693Leu
XM_005257365.4:c.2086-3854C>T	XP_005257422.1:n.2086-3854C>T
XM_005257366.3:c.1991C>T	XP_005257423.1:p.Pro664Leu
XM_005257367.4:c.1967C>T	XP_005257424.1:p.Pro656Leu
XM_005257368.4:c.1888-3854C>T	XP_005257425.1:n.1888-3854C>T
XM_005257369.4:c.1100C>T	XP_005257426.1:p.Pro367Leu
XM_005257370.4:c.1013C>T	XP_005257427.1:p.Pro338Leu
XM_005257371.4:c.926C>T	XP_005257428.1:p.Pro309Leu
NM_001203251.2:c.736-3854C>T	NP_001190180.1:n.736-3854C>T
NM_001377265.1:c.2078C>T MANE Select	NP_001364194.1:p.Pro693Leu
NM_001377266.1:c.1801-3854C>T	NP_001364195.1:n.1801-3854C>T
NM_001377267.1:c.736-3854C>T	NP_001364196.1:n.736-3854C>T
NM_001377268.1:c.649-3854C>T	NP_001364197.1:n.649-3854C>T
NM_016834.5:c.728C>T	NP_058518.1:p.Pro243Leu
NM_016841.5:c.649-3854C>T	NP_058525.1:n.649-3854C>T
NR_165166.1:n.747-3854C>T
NM_001123066.4:c.1907C>T	NP_001116538.2:p.Pro636Leu
NM_001123067.4:c.815C>T	NP_001116539.1:p.Pro272Leu
NM_001203252.2:c.823-3854C>T	NP_001190181.1:n.823-3854C>T
NM_005910.6:c.902C>T	NP_005901.2:p.Pro301Leu
NM_016835.5:c.1853C>T	NP_058519.3:p.Pro618Leu

Linked Data

Genomic Alleles

Transcript Alleles