Canonical Allele Identifier: CA400203965

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188955C>G , CM000679.2:g.50188955C>G	GRCh38
NC_000017.10:g.48266316C>G , CM000679.1:g.48266316C>G	GRCh37
NC_000017.9:g.45621315C>G	NCBI36
NG_007400.1:g.17685G>C , LRG_1:g.17685G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2993G>C MANE Select	NP_000079.2:p.Gly998Ala
ENST00000225964.10:c.2993G>C MANE Select	ENSP00000225964.6:p.Gly998Ala
NM_000088.3:c.2993G>C , LRG_1t1:c.2993G>C	NP_000079.2:p.Gly998Ala
ENST00000225964.9:c.2993G>C	ENSP00000225964.5:p.Gly998Ala
XM_005257058.3:c.2723G>C	XP_005257115.2:p.Gly908Ala
XM_005257058.4:c.2723G>C	XP_005257115.2:p.Gly908Ala
XM_005257059.3:c.2075G>C	XP_005257116.2:p.Gly692Ala
XM_005257059.4:c.2075G>C	XP_005257116.2:p.Gly692Ala
XM_011524341.1:c.2795G>C	XP_011522643.1:p.Gly932Ala