Canonical Allele Identifier: CA400213942

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48270050G>A (hg19) ; chr17:g.50192689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192689G>A , CM000679.2:g.50192689G>A	GRCh38
NC_000017.10:g.48270050G>A , CM000679.1:g.48270050G>A	GRCh37
NC_000017.9:g.45625049G>A	NCBI36
NG_007400.1:g.13951C>T , LRG_1:g.13951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1880C>T MANE Select	ENSP00000225964.6:p.Pro627Leu
ENST00000225964.9:c.1880C>T	ENSP00000225964.5:p.Pro627Leu
ENST00000476387.1:n.229C>T
NM_000088.3:c.1880C>T , LRG_1t1:c.1880C>T	NP_000079.2:p.Pro627Leu
XM_005257058.3:c.1880C>T	XP_005257115.2:p.Pro627Leu
XM_005257059.3:c.962C>T	XP_005257116.2:p.Pro321Leu
XM_011524341.1:c.1682C>T	XP_011522643.1:p.Pro561Leu
XM_005257058.4:c.1880C>T	XP_005257115.2:p.Pro627Leu
XM_005257059.4:c.962C>T	XP_005257116.2:p.Pro321Leu
NM_000088.4:c.1880C>T MANE Select	NP_000079.2:p.Pro627Leu