Canonical Allele Identifier: CA400194005

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186501T>G , CM000679.2:g.50186501T>G	GRCh38
NC_000017.10:g.48263862T>G , CM000679.1:g.48263862T>G	GRCh37
NC_000017.9:g.45618861T>G	NCBI36
NG_007400.1:g.20139A>C , LRG_1:g.20139A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3821A>C MANE Select	NP_000079.2:p.Tyr1274Ser
ENST00000225964.10:c.3821A>C MANE Select	ENSP00000225964.6:p.Tyr1274Ser
NM_000088.3:c.3821A>C , LRG_1t1:c.3821A>C	NP_000079.2:p.Tyr1274Ser
ENST00000225964.9:c.3821A>C	ENSP00000225964.5:p.Tyr1274Ser
ENST00000510710.3:n.490A>C
XM_005257058.3:c.3551A>C	XP_005257115.2:p.Tyr1184Ser
XM_005257058.4:c.3551A>C	XP_005257115.2:p.Tyr1184Ser
XM_005257059.3:c.2903A>C	XP_005257116.2:p.Tyr968Ser
XM_005257059.4:c.2903A>C	XP_005257116.2:p.Tyr968Ser
XM_011524341.1:c.3623A>C	XP_011522643.1:p.Tyr1208Ser