Canonical Allele Identifier: CA400190185

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185552-C-A
• MyVariant Identifiers: chr17:g.48262913C>A (hg19) ; chr17:g.50185552C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185552C>A , CM000679.2:g.50185552C>A	GRCh38
NC_000017.10:g.48262913C>A , CM000679.1:g.48262913C>A	GRCh37
NC_000017.9:g.45617912C>A	NCBI36
NG_007400.1:g.21088G>T , LRG_1:g.21088G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4345G>T MANE Select	ENSP00000225964.6:p.Ala1449Ser
ENST00000225964.9:c.4345G>T	ENSP00000225964.5:p.Ala1449Ser
NM_000088.3:c.4345G>T , LRG_1t1:c.4345G>T	NP_000079.2:p.Ala1449Ser
XM_005257058.3:c.4075G>T	XP_005257115.2:p.Ala1359Ser
XM_005257059.3:c.3427G>T	XP_005257116.2:p.Ala1143Ser
XM_011524341.1:c.4147G>T	XP_011522643.1:p.Ala1383Ser
XM_005257058.4:c.4075G>T	XP_005257115.2:p.Ala1359Ser
XM_005257059.4:c.3427G>T	XP_005257116.2:p.Ala1143Ser
NM_000088.4:c.4345G>T MANE Select	NP_000079.2:p.Ala1449Ser