Canonical Allele Identifier: CA8645823

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199907A>T , CM000679.2:g.50199907A>T	GRCh38
NC_000017.10:g.48277268A>T , CM000679.1:g.48277268A>T	GRCh37
NC_000017.9:g.45632267A>T	NCBI36
NG_007400.1:g.6733T>A , LRG_1:g.6733T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.144T>A MANE Select	NP_000079.2:p.His48Gln
ENST00000225964.10:c.144T>A MANE Select	ENSP00000225964.6:p.His48Gln
NM_000088.3:c.144T>A , LRG_1t1:c.144T>A	NP_000079.2:p.His48Gln
ENST00000225964.9:c.144T>A	ENSP00000225964.5:p.His48Gln
ENST00000474644.1:n.263T>A
ENST00000507689.1:c.198T>A	ENSP00000460459.1:p.His66Gln
XM_005257058.3:c.144T>A	XP_005257115.2:p.His48Gln
XM_005257058.4:c.144T>A	XP_005257115.2:p.His48Gln
XM_005257059.3:c.144T>A	XP_005257116.2:p.His48Gln
XM_005257059.4:c.144T>A	XP_005257116.2:p.His48Gln
XM_011524341.1:c.144T>A	XP_011522643.1:p.His48Gln