Canonical Allele Identifier: CA400204879

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189208T>A , CM000679.2:g.50189208T>A	GRCh38
NC_000017.10:g.48266569T>A , CM000679.1:g.48266569T>A	GRCh37
NC_000017.9:g.45621568T>A	NCBI36
NG_007400.1:g.17432A>T , LRG_1:g.17432A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2897A>T MANE Select	NP_000079.2:p.Gln966Leu
ENST00000225964.10:c.2897A>T MANE Select	ENSP00000225964.6:p.Gln966Leu
NM_000088.3:c.2897A>T , LRG_1t1:c.2897A>T	NP_000079.2:p.Gln966Leu
ENST00000225964.9:c.2897A>T	ENSP00000225964.5:p.Gln966Leu
XM_005257058.3:c.2668-198A>T	XP_005257115.2:n.2668-198A>T
XM_005257058.4:c.2668-198A>T	XP_005257115.2:n.2668-198A>T
XM_005257059.3:c.1979A>T	XP_005257116.2:p.Gln660Leu
XM_005257059.4:c.1979A>T	XP_005257116.2:p.Gln660Leu
XM_011524341.1:c.2699A>T	XP_011522643.1:p.Gln900Leu